Varaico: Literature-Extracted Genetic Variants

PLCG1

355 papers

RefSeq Summary

The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and pla...

Pfam Domains

PHaa 33–142UCSCPH domain

EF_HAND_1_PLCGaa 145–220UCSCPLCG EF-hand motif 1

EF_HAND_2_PLCGaa 243–313UCSCPLCG EF-hand motif 2

PI-PLC-Xaa 322–465UCSCPhosphatidylinositol-specific phospholipase C, X domain

SH2aa 550–639UCSCSH2 domain

SH2aa 668–741UCSCSH2 domain

Gene Aliases

HGNC Name

phospholipase C gamma 1

HGNC Previous Symbol

PLC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002660.3

p.Q262delFs

c.786delG

Surrounding Variants

1 paper

NM_002660.3

p.Q262fs

c.784_785fs

1 paper

NM_002660.3

p.Q262H

c.786G>C

1 paper

NM_002660.3

p.Q262H

c.786G>T

1 paper

NM_002660.3

p.G263V

c.788G>T

1 paper

NM_002660.3

p.Y261H

c.781T>C

1 paper

NM_002660.3

p.D260G

c.779A>G

1 paper

NM_002660.3

p.Q256K

c.766C>A

1 paper

NM_002660.3

p.P252H

c.755C>A

1 paper

NM_002660.3

p.R248Q

c.743G>A

4 papers

NM_002660.3

p.P244L

c.731C>T

2 papers

NM_002660.3

p.R243Q

c.728G>A

1 paper

NM_002660.3

p.R243W

c.727C>T